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Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del mutation associated cardiomyopathy.
Gho JM, van Es R, Stathonikos N, Harakalova M, te Rijdt WP, Suurmeijer AJ, van der Heijden JF, de Jonge N, Chamuleau SA, de Weger RA, Asselbergs FW, Vink A. Gho JM, et al. Among authors: harakalova m. PLoS One. 2014 Apr 14;9(4):e94820. doi: 10.1371/journal.pone.0094820. eCollection 2014. PLoS One. 2014. PMID: 24732829 Free PMC article.
61 results